Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
laminin, alpha 3
Synonyms:
nicein, 150kDa,  [a]3B

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lama3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lama3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, A... ORPHA:79402
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Skin ulcer OMIM:245660
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Abnormal oral mucosa morphology, Enamel hypoplasia, Aplasia cutis ... ORPHA:79404

The table below shows human diseases predicted to be associated to Lama3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Keloids, Oral mucosal blisters, Atypical scarring of skin, Milia, Carious teeth, Erythematous pap... ORPHA:79410
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Enamel hypoplasia, Carious teeth, Failure to thrive, Pylori... OMIM:226700
Darier Disease
Palmoplantar keratoderma, Anal mucosal leukoplakia, Acrokeratosis, Plantar pits, Macule, Hypermel... ORPHA:218
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, A... ORPHA:79402
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Gastrointestinal inflammation, Enamel hypoplasia, Carious teeth, Localized... ORPHA:79405
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Hypodontia, Dysphagia, Enamel hypoplasia OMIM:616029
Shaheen Syndrome
Palmoplantar hyperkeratosis, Carious teeth, Enamel hypoplasia OMIM:615328
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae, Parakeratosis, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplantar... ORPHA:64745
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Dowling-Degos Disease
Epidermoid cyst, Digital pitting scar, Hypopigmented macule, Anal margin squamous cell carcinoma,... ORPHA:79145
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Lichen Planus Pemphigoides
Hyperkeratosis, Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Thin upper lip vermilion, Palmoplantar keratoderma, Enamel hypoplasia OMIM:613576
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Annular cutaneous lesion, Erythema, Acantholysis, Erythematous p... ORPHA:79481
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Palmoplantar hyperkeratosis, Carious teeth, Scarring alopecia of scalp, Milia,... OMIM:226670
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Iga Pemphigus
Oral mucosal blisters, Annular cutaneous lesion, Acantholysis, Ulcerative colitis, Skin plaque, S... ORPHA:555905
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Pemphigoid Gestationis
Failure to thrive, Skin vesicle ORPHA:63275
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Papule, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Skin v... ORPHA:257
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Enamel hypoplasia, Scarring alopecia of scalp, Apl... ORPHA:251393
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Thick vermilion border, Palmoplantar hyperkeratosis, Carious teeth, Enamel hypoplasia ORPHA:363523
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hyperkeratosis, Failure to thrive, Abnormal den... ORPHA:3019
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle, Angular cheilitis OMIM:613102
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Skin ulcer OMIM:245660
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Enamel hypoplasia, Palmoplantar hyperkeratosis, Carious teeth, Supernumerary tooth, Yel... ORPHA:69087
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Enamel hypoplasia, Parakeratosis, Oligodontia, Hypodontia, Dry skin OMIM:607626
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microdontia of primar... OMIM:234250
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Pyoderma Gangrenosum
Papule, Inflammation of the large intestine, Skin ulcer, Skin vesicle, Atrophic scars ORPHA:48104
Dermatitis Herpetiformis
Macule, Skin vesicle, Erythema, Malabsorption ORPHA:1656
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
17Q11.2 Microduplication Syndrome
Thin vermilion border, Malar flattening, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:139474
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Aplasia cutis congenita, Esophageal atresia, Arthrogryposis multiplex congenit... OMIM:226730
Trichoodontoonychial Dysplasia With Bone Deficiency
Anodontia, Melanocytic nevus, Enamel hypoplasia OMIM:275450
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Palmoplantar keratoderma, Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth, Facial er... OMIM:612843
Wells Syndrome
Cellulitis, Skin vesicle ORPHA:901
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Widely spaced teeth, Palmar hyperkeratosis, Enamel hypoplasia, Conical tooth OMIM:613573
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Autosomal Dominant Hyper-Ige Syndrome
Cellulitis, Delayed eruption of teeth, Papule, Skin vesicle, Gingivitis, Abnormality of the denti... ORPHA:2314
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Malar flattening, Mandibular prognathia, Enamel hypoplasia OMIM:600991
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Dry skin, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Abnormal dental enamel morphology, Dry skin ORPHA:816
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Carious teeth, Obesity, Micrognathia... OMIM:618363
Dyskeratosis Congenita
Oral leukoplakia, Palmoplantar keratoderma, Hypopigmented skin patches, Periodontitis, Carious te... ORPHA:1775
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Microglossia, Absent frontal sinuses,... OMIM:253250
Pseudopseudohypoparathyroidism
Obesity, Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Flexion contracture, Corneal scarring, Enamel hypoplasia, Esophageal stricture, Dys... OMIM:226600
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Hyperkeratosis, Esophageal varix, Failure... OMIM:614576
Hennekam-Beemer Syndrome
High palate, Thick lower lip vermilion, Papule, Erythema, Micrognathia, Macule, Subcutaneous nodu... ORPHA:2135
48,Xyyy Syndrome
High palate, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion, Irregularly spaced teeth ORPHA:99329
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Lichtenstein Syndrome
Carious teeth, Downturned corners of mouth, Enamel hypoplasia OMIM:246550
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Porphyria Variegata
Ileus, Localized skin lesion, Scarring, Hepatocellular carcinoma, Milia, Skin vesicle, Skin erosion ORPHA:79473
Andersen Cardiodysrhythmic Periodic Paralysis
Preauricular pit, High palate, Prominent frontal sinuses, Enamel hypoplasia, Oligodontia, Antegon... OMIM:170390
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Enamel hypoplasia OMIM:251190
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Cockayne Syndrome Type 2
Flexion contracture, Widely spaced primary teeth, Enamel hypoplasia, Hypermelanotic macule, Delay... ORPHA:90322
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Pachyonychia Congenita
Oral leukoplakia, Palmoplantar keratoderma, Eruptive vellus hair cyst, Palmar hyperkeratosis, Ang... ORPHA:2309
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Decreased body weight, Delayed eruption of teeth, Drooling, Enamel hypop... OMIM:619229
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Hernia, Enamel hypoplasia, Hypodontia, Microdontia, Micrognathia, Hyperk... OMIM:617052
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Failure to thrive, Malar flattening, Bilateral cleft lip and pala... OMIM:618874
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Aplasia cutis congenita, Flexion contracture OMIM:612138
Leukocyte Adhesion Deficiency Type Ii
Protruding tongue, Small for gestational age, Deep philtrum, Skin vesicle, Failure to thrive, Rec... ORPHA:99843
Corneodermatoosseous Syndrome
Abnormality of the dentition, Palmoplantar hyperkeratosis, Hypomature dental enamel OMIM:122440
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Enamel hypoplasia, Colonic atresia, Intestinal malrotation, Intestinal obstruction,... OMIM:243150
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Flexion contracture, Drooling, Enamel hypoplasia, Gastroesophageal reflux, Microd... OMIM:619293
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters, Enamel hypoplasia, Aplasia cutis ... ORPHA:79396
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Sweet Syndrome
Erythematous plaque, Inflammation of the large intestine, Skin vesicle, Pyoderma gangrenosum, Ski... ORPHA:3243
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla... OMIM:601216
Pycnodysostosis
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Micrognathia, Overweight, Hypoplasia o... ORPHA:763
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Failure to thrive, Malar flattening OMIM:614727
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Conical tooth, Oligodontia, Scarring alopecia of scalp, Microdontia, Malar fla... OMIM:618727
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Dry skin, Marked delay in eruption of permanent teeth, Yellow... OMIM:104570
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Hyperpigmented nevi, Supernumerary tooth, P... ORPHA:2980
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Microdontia, Retrognathia, Abnormality of the dentition ORPHA:557003
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Shagreen patch, Palmoplantar keratoderma, Hypodontia, Delayed eruption of teeth ORPHA:1816
Scarf Syndrome
Long philtrum, Enamel hypoplasia, Cutis laxa, Inguinal hernia, Hypocalcification of dental enamel... ORPHA:3134
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Kindler Epidermolysis Bullosa
Premature loss of primary teeth, Palmoplantar keratoderma, Flexion contracture, Atypical scarring... ORPHA:2908
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Atypical scarring of skin, Dry skin, Oligodontia, Hyperkeratosis, Abnormal denta... OMIM:601701
Warty Dyskeratoma
Abnormality of the alveolar ridges, Abnormal hard palate morphology, Umbilicated nodule, Acanthol... ORPHA:69745
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Chronic Mucocutaneous Candidiasis
Erythema, Papule, Hyperkeratosis, Cheilitis, Abnormal dental enamel morphology, Skin ulcer, Abnor... ORPHA:1334
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Costello Syndrome
Failure to thrive in infancy, Gastroesophageal reflux, Thick lower lip vermilion, Macroglossia, H... ORPHA:3071
Xfe Progeroid Syndrome
Corneal scarring, Dermal atrophy, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous f... OMIM:610965
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Pseudohypoparathyroidism, Type Ic
Obesity, Delayed eruption of teeth, Enamel hypoplasia OMIM:612462
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Gastroesophageal reflux, Carious teeth, Thick lower lip ver... ORPHA:10
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Enamel hypoplasia, Misalignment of incisors, Oligodontia, Hypodontia, Oral... OMIM:619184
Raine Syndrome
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Micrognathia, Natal tooth, Malar flatt... OMIM:259775
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Widely spaced primary teeth, Enamel hypoplasia, An... ORPHA:90321
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... OMIM:257850
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Mandibul... ORPHA:1133
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Everted lower lip vermilion, Abnormal dental enamel morphology, Abnormal... ORPHA:1515
Pseudohypoparathyroidism, Type Ia
Obesity, Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Aplasia cutis congenita, Natal tooth, Neonatal death, Skin erosion OMIM:609638
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia OMIM:263540
Seckel Syndrome 1
High palate, Dental malocclusion, Enamel hypoplasia, Micrognathia, Selective tooth agenesis, Dent... OMIM:210600
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal palate morphology, Shagreen patch, Open bite, Carious teeth, Lipoatrophy, Micrognathia, ... ORPHA:2617
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Junctional Epidermolysis Bullosa With Pyloric Atresia
Oral mucosal blisters, Enamel hypoplasia, Aplasia cutis congenita, Intestinal atresia, Congenital... ORPHA:79403
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Carious teeth, Delayed eruption of teeth, Enamel hypoplasia OMIM:277440
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Hypodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp ORPHA:59303
Pemphigus Erythematosus
Hypopigmented skin patches, Acantholysis, Localized skin lesion, Erythematous plaque, Oral ulcer,... ORPHA:79480
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Chronic Graft Versus Host Disease
Flexion contracture, Intermittent generalized erythematous papular rash, Gastroesophageal reflux,... ORPHA:99921
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Enamel hypoplasia, Pulp calcification OMIM:211900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Obesity, Malar flattening, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:2180
Short Syndrome
Lipodystrophy, Microdontia, Abnormal mandible morphology, Inguinal hernia, Malar flattening, Abno... ORPHA:3163
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Decreased body weight, Long philtrum, Small for gestational age, Ol... ORPHA:391408
Hall-Riggs Syndrome
Thick vermilion border, Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morp... ORPHA:2107
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, High palate, Flexion contracture, Dermal atrophy, Decreased adipose tissue around n... OMIM:608612
Qazi-Markouizos Syndrome
Drooling, Open mouth, Hypoplasia of teeth, High, narrow palate, Broad philtrum ORPHA:3010
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Recurrent aphthous stomatitis, Failure to thrive, Celiac disease, Stomatitis, ... OMIM:212750
Darier-White Disease
Acantholysis, Acrokeratosis, Plantar pits, Palmar pits, Hypermelanotic macule, Subungual hyperker... OMIM:124200
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Palmoplantar hyperkeratosis, Hypodontia, Carious teeth, Micrognathia, Abnormalit... ORPHA:3253
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Immunodeficiency 9
Amelogenesis imperfecta, Failure to thrive, Stomatitis, Recurrent aphthous stomatitis OMIM:612782
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita OMIM:217150
Corneodermatoosseous Syndrome
Palmoplantar keratoderma, Carious teeth, Erythema, Abnormal dental enamel morphology, Gingivitis ORPHA:3194
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Enamel hypoplasia, Failure to thrive, Abnormality of the dentition, Wide mouth OMIM:615802
Pachyonychia Congenita 2
Natal tooth, Palmoplantar hyperkeratosis, Subungual hyperkeratosis, Epidermoid cyst OMIM:167210
Specific Granule Deficiency 2
Amelogenesis imperfecta, Failure to thrive, Tooth malposition, Conical tooth OMIM:617475
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Increased subcutaneous truncal adipose tissue, Contractu... ORPHA:2457
Orofaciodigital Syndrome I
Tongue nodules, High palate, Agenesis of permanent teeth, Cleft upper lip, Enamel hypoplasia, Lob... OMIM:311200
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Dentinogenesis imperfecta, Molluscoid pseudotumors, Atypical scarring of... OMIM:229200
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Short philtrum, Natal tooth, Orthokeratosis OMIM:617337
Kilquist Syndrome
Intestinal malrotation, Gastroesophageal reflux, Hypoplasia of teeth, Midgut malrotation, Mandibu... OMIM:619080
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Del... ORPHA:1782
Ohdo Syndrome
Narrow mouth, Long philtrum, Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Smooth philt... OMIM:249620
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Small for gestational age, Carious teeth, Microdontia, Palmar hyperker... ORPHA:2909
Oculodentodigital Dysplasia
Broad alveolar ridges, Cleft upper lip, Enamel hypoplasia, Carious teeth, Microdontia, Joint cont... OMIM:164200
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Scarf Syndrome
Long philtrum, Enamel hypoplasia, Cutis laxa, Inguinal hernia, Umbilical hernia OMIM:312830
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Abnormal stomach morphology ORPHA:281090
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Malabsorption, Enamel hypoplasia OMIM:240300
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Delayed eruption of teeth, Enamel hypoplasia ORPHA:289157
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Chikungunya
Petechiae, Gingival bleeding, Erythema, Macule, Enthesitis, Skin vesicle ORPHA:324625
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Microdontia, Truncal obesity, Retrognathia, Cafe-au-lait spot OMIM:210720
Cleidocranial Dysplasia
High palate, Absent paranasal sinuses, Hypoplastic frontal sinuses, Enamel hypoplasia, Supernumer... OMIM:119600
Cockayne Syndrome A
Dental malocclusion, Atypical scarring of skin, Enamel hypoplasia, Carious teeth, Hypoplasia of t... OMIM:216400
48,Xxxy Syndrome
Delayed eruption of teeth, Open bite, Gastroesophageal reflux, Carious teeth, Obesity, Inguinal h... ORPHA:96263
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Hypoplasia of ... ORPHA:50814
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, High palate, Flexion contracture, Dermal atrophy, Increased facial adipose tissue,... OMIM:248370
Focal Dermal Hypoplasia
Dermal atrophy, Open bite, Hernia, Inguinal hernia, Abnormality of dental morphology, Abnormal de... ORPHA:2092
Usher Syndrome Type 2
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:231178
Temtamy Syndrome
Hypoplasia of teeth, Dental crowding, Long philtrum, Micrognathia OMIM:218340
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Pde4D Haploinsufficiency Syndrome
Short philtrum, Long philtrum, Obesity, Micrognathia, Hypoplasia of the maxilla, Malar flattening... ORPHA:439822
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Trichothiodystrophy
Multiple joint contractures, Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of su... ORPHA:33364
Treacher-Collins Syndrome
Open bite, Micrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Cleft palate, Narrow mou... ORPHA:861
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Palmoplantar keratoderma, Delayed eruption of teeth, Non-midline cle... ORPHA:1071
Koolen-De Vries Syndrome
Dry skin, Hypodontia, Microdontia, Everted lower lip vermilion, High, narrow palate, Abnormal den... ORPHA:96169
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hyperkeratosis, Abnormal dental enamel morphology, Malabsorption, Me... ORPHA:79430
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Orthokeratotic hyperkeratosis, Long philtrum, Micrognathia, Maxillary lateral incisor microdontia... ORPHA:73223
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Rothmund-Thomson Syndrome Type 2
High palate, Delayed eruption of teeth, Small for gestational age, Dermal atrophy, Carious teeth,... ORPHA:221016
Codas Syndrome
Rectovaginal fistula, Delayed eruption of teeth, Enamel hypoplasia, Gastroesophageal reflux, Anal... OMIM:600373
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Localized skin lesion, Neop... ORPHA:733
Acrocallosal Syndrome
High palate, Short philtrum, Rectovaginal fistula, Cleft upper lip, Long philtrum, Open mouth, Hy... OMIM:200990
Eec Syndrome
Dry skin, Carious teeth, Microdontia, Tooth agenesis, Hyperkeratosis, Abnormal dental enamel morp... ORPHA:1896
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Cleidocranial Dysplasia
Sinusitis, Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary tooth, High, narrow... ORPHA:1452
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Dry skin, Microdontia, Inguinal hernia, Abnormal dental enamel morphology, Retrognathia, Hypoplas... ORPHA:1812
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Small for gestational age, Dermal atrophy, Carious teeth, Microdontia,... ORPHA:221008
Dysostosis, Stanescu Type
Abnormal palate morphology, Carious teeth, Macroglossia, Hypoplasia of the maxilla, Abnormal dent... ORPHA:1798
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal dental enamel morphology ORPHA:1005
Rothmund-Thomson Syndrome, Type 2
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Small for gestational age, D... OMIM:268400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia, Hypodontia, Abnormal dental enamel morphology, Mandibular prognathia, Macrodontia... ORPHA:2916
Pseudohypoparathyroidism Type 1C
Osteoma cutis, Obesity, Delayed eruption of teeth, Enamel hypoplasia ORPHA:79444
49,Xxxxy Syndrome
Delayed eruption of teeth, Open bite, Gastroesophageal reflux, Carious teeth, Abnormal dental ena... ORPHA:96264
Nail-Patella Syndrome
Achilles tendon contracture, Morphological abnormality of the gastrointestinal tract, Flexion con... ORPHA:2614
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Intestinal malrotation, Gastroesophageal reflux, Sub... OMIM:614701
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Abnormal oral mucosa morphology, Enamel hypoplasia, Aplasia cutis ... ORPHA:79404
Familial Adenomatous Polyposis 1
Multiple lipomas, Keloids, Hepatoblastoma, Abnormality of the dentition, Colon cancer, Carious te... OMIM:175100
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth ORPHA:2728
Incontinentia Pigmenti
Delayed eruption of teeth, Hypopigmented skin patches, Hypodontia, Erythema, Hyperkeratosis, Abno... ORPHA:464
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Adenomatous coloni... ORPHA:157798
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
Osteogenesis Imperfecta, Type X
Micrognathia, Inguinal hernia, Malar flattening, Pyloric stenosis, Dentinogenesis imperfecta OMIM:613848
Stuve-Wiedemann Syndrome 1
Contracture of the proximal interphalangeal joint of the 5th finger, Smooth tongue, Micrognathia,... OMIM:601559
Cockayne Syndrome
Agenesis of permanent teeth, Enamel hypoplasia, Contractures of the large joints, Carious teeth, ... ORPHA:191
Cranioectodermal Dysplasia 3
Everted lower lip vermilion, Widely spaced teeth, Cutis laxa, Hypoplasia of teeth, Micrognathia, ... OMIM:614099
Sanjad-Sakati Syndrome
Long philtrum, Micrognathia, Intestinal obstruction, Abnormal dental enamel morphology, Abnormali... ORPHA:2323
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Gastroesophageal reflux, Cari... OMIM:607812
Mucopolysaccharidosis Type 4
Hernia, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the dent... ORPHA:582
Ménétrier Disease
Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylori infection, Gastroe... ORPHA:2494
Cranioectodermal Dysplasia 1
High palate, Enamel hypoplasia, Hypodontia, Microdontia, Everted lower lip vermilion, Widely spac... OMIM:218330
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Harrod Syndrome
Narrow mouth, High palate, Malrotation of small bowel, Aganglionic megacolon, High, narrow palate... OMIM:601095
Focal Dermal Hypoplasia
Hiatus hernia, Dental malocclusion, Cleft upper lip, Delayed eruption of teeth, Dermal atrophy, E... OMIM:305600
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Abnormal gastric mucosa morphology, Malabsorption, Cac... ORPHA:1876
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Micrognathia, Facial erythema, Inguinal hernia, Dysphagia, Mandibular prognathia, Arthrogryposis ... OMIM:619503
Oculodentodigital Dysplasia
Broad alveolar ridges, Premature loss of primary teeth, Palmoplantar keratoderma, Non-midline cle... ORPHA:2710
Pseudohypoparathyroidism Type 1A
Osteoma cutis, Obesity, Delayed eruption of teeth, Enamel hypoplasia ORPHA:79443
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Ectopic anus, Abnormal palate morphology, Micrognathia, Anal atresia, Abnormality of dental morph... ORPHA:85199
Congenital Disorder Of Glycosylation, Type Iim
High palate, Short philtrum, Fused teeth, Enamel hypoplasia, Open mouth, Gastroesophageal reflux,... OMIM:300896
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Failure of eruption of permanent teeth, Inguinal hernia, Cleft palate, Preauri... OMIM:272460
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Cenani-Lenz Syndrome
Short philtrum, Hypodontia, High, narrow palate, Malar flattening, Abnormal dental enamel morphology ORPHA:3258
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Obesity, Delayed eruption of permanent teeth, Premature loss of teeth, Retrognathi... OMIM:619269
Orofaciodigital Syndrome Type 1
Accessory oral frenulum, High palate, Broad alveolar ridges, Tongue nodules, Dry skin, Open bite,... ORPHA:2750
Scleroderma
Narrow mouth, Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Flexion con... ORPHA:801
Systemic Sclerosis
Narrow mouth, Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Flexion con... ORPHA:90291
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Delayed eruption of permanent teeth, Dagger-shaped pulp calcifications, ... OMIM:204690
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Bifid uvula, Enamel hypoplasia, Hypodontia, Microdontia, Cari... ORPHA:2363
Cockayne Syndrome B
Dental malocclusion, Atypical scarring of skin, Small for gestational age, Dermal atrophy, Cariou... OMIM:133540
Rubinstein-Taybi Syndrome 1
Narrow mouth, High palate, Keloids, Flexion contracture, Enamel hypoplasia, Aganglionic megacolon... OMIM:180849
Gardner Syndrome
Odontoma, Keloids, Hepatoblastoma, Duodenal polyposis, Gastrointestinal carcinoma, Colon cancer, ... ORPHA:79665
Seckel Syndrome
Tooth agenesis, Cachexia, Abnormal dental enamel morphology, Micrognathia ORPHA:808
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Micrognathia ORPHA:2050
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... OMIM:253000
Oculocerebrorenal Syndrome Of Lowe
Long philtrum, Open bite, Everted lower lip vermilion, Micrognathia, Inguinal hernia, Mandibular ... ORPHA:534
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Mucopolysaccharidosis, Type Ivb
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... OMIM:253010
Branchioskeletogenital Syndrome
Short philtrum, Periorbital wrinkles, Bifid uvula, Rootless teeth, Unilateral cleft palate, Cario... ORPHA:1299
3M Syndrome
Abnormal dental enamel morphology, Everted lower lip vermilion, Long philtrum, Delayed eruption o... ORPHA:2616
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Multiple cafe-au-lait spots, Supernumerary t... ORPHA:3353
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Abnormal dental enamel morphology, Taurodontia, Camptodactyly of fi... ORPHA:3220
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Subcutaneous nodule, Failure to thrive, Camptodactyly of finger, Joint contrac... OMIM:309000
Usher Syndrome
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:886
Cockayne Syndrome Type 3
Gastroesophageal reflux, Carious teeth, Flexion contracture, Enamel hypoplasia ORPHA:90324
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Thin skin OMIM:166200
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Contracture of the proximal interphalangeal joint of the 5th finger, Micrognathia, H... ORPHA:293967
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta ORPHA:169090
Tuberous Sclerosis 1
Dental enamel pits, Shagreen patch, Hypomelanotic macule, Gingival fibromatosis, Subcutaneous nod... OMIM:191100
Barber-Say Syndrome
High palate, Delayed eruption of teeth, Dermal atrophy, Dry skin, Micrognathia, High, narrow pala... OMIM:209885
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology ORPHA:251004
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Dermal atrophy, Hypopigmented skin patches, Erythema, Congenital diaphragmatic her... ORPHA:2556
Epidermolysis Bullosa Simplex With Pyloric Atresia
Flexion contracture, Oral mucosal blisters, Scarring alopecia of scalp, Aplasia cutis congenita, ... ORPHA:158684
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, High, narrow palate, Femoral hernia, Inguinal hernia, Submucous cleft hard palate, W... ORPHA:2658
Ramon Syndrome
Decreased body weight, Delayed eruption of teeth, Gingival fibromatosis, Hyperkeratosis, Narrow p... OMIM:266270
Bosma Arhinia Microphthalmia Syndrome
High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, Cleft lip, Inguinal hernia, Dental ... OMIM:603457
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Hypophosphatemic Rickets
Periapical tooth abscess, Craniofacial asymmetry, Craniofacial osteosclerosis, Odontodysplasia, M... ORPHA:437
Stickler Syndrome
Cleft upper lip, Long philtrum, Open bite, Slender build, Gastroesophageal reflux, Micrognathia, ... ORPHA:828
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dermal translucency, High palate, Long philtrum, Multiple joint contractures, Microdontia, Cariou... ORPHA:536467
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Colonic diverticula, Ster... ORPHA:263665
22Q11.2 Deletion Syndrome
Long philtrum, Gastrointestinal hemorrhage, Micrognathia, Anorectal anomaly, Inguinal hernia, Cle... ORPHA:567
Pallister-Killian Syndrome
Bifid uvula, Long philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Micrognathia... OMIM:601803
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Osteogenesis Imperfecta
Dental malocclusion, Flexion contracture, Delayed eruption of teeth, Small for gestational age, C... ORPHA:666
Smith-Lemli-Opitz Syndrome
Long philtrum, Gastroesophageal reflux, Supernumerary tooth, Bifid tongue, Aganglionic megacolon,... ORPHA:818
Lacrimoauriculodentodigital Syndrome
Absence of Stensen duct, Enamel hypoplasia, Hypodontia, Carious teeth, Conical incisor, Delayed e... OMIM:149730
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Aganglionic megacolon, Papule, Hyperkeratosis, Inguinal hernia, Omphalocele, Abnormal d... ORPHA:2273
Reynolds Syndrome
Gastroesophageal reflux, Abnormal gastric mucosa morphology, Dysphagia, Skin ulcer, Xerostomia ORPHA:779
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Williams Syndrome
Long philtrum, Open bite, Failure to thrive in infancy, Everted lower lip vermilion, Microdontia,... ORPHA:904
Proteus Syndrome
Generalized hyperkeratosis, Multiple cafe-au-lait spots, Carious teeth, Lipoma, Abnormal subcutan... ORPHA:744
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Rectovaginal fistula, Microgastria, Intestinal malrotation, Gastroesophageal reflu... ORPHA:2538
X-Linked Hypophosphatemia
Cellulitis, Odontodysplasia, Tooth abscess, Abnormal dentin morphology, Enthesitis ORPHA:89936
Johanson-Blizzard Syndrome
Rectovaginal fistula, Agenesis of permanent teeth, Small for gestational age, Colonic diverticula... OMIM:243800
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Tetrasomy 9P
Amelogenesis imperfecta, High palate, Bifid uvula, Abnormal number of permanent teeth, Short phil... ORPHA:3310
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Dentinogenesis imperfecta OMIM:610915
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Gastrointestinal hemorrhage, Gastric varix ORPHA:64743
Proximal Renal Tubular Acidosis
Malabsorption, Failure to thrive, Enamel hypomineralization ORPHA:47159
Microgastria-Limb Reduction Defects Association
Microgastria, Intestinal malrotation, Gastroesophageal reflux, Aganglionic megacolon, Failure to ... OMIM:156810
Singleton-Merten Syndrome 1
Decreased body weight, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Hypoplasia ... OMIM:182250
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Metachromatic Leukodystrophy
Abnormal stomach morphology, Intussusception, Abnormal duodenum morphology, Neoplasm of the gallb... ORPHA:512
Hardikar Syndrome
Preauricular pit, Cleft soft palate, Unilateral cleft palate, Unilateral cleft lip, Intestinal ma... OMIM:301068
Viss Syndrome
Bifid uvula, Micrognathia, High, narrow palate, Inguinal hernia, Macroglossia, Dysphagia, Retrogn... OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lama3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lama3.

No publications found that use IMPC mice or data for Lama3.

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MGI Allele Allele Type Produced
Lama3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lama3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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